Publications by Medical Specialty - Genetics

These publications were authored or co-authored by Quest Diagnostics staff.

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

Authors: Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR.
Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7.

Specialties: Genetics

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

ThETA: transcriptome-driven efficacy estimates for gene-based TArget discovery

Authors: Failli M, Paananen J, Fortino V.
Bioinformatics. 2020 Aug 15;36(14):4214-4216. doi: 10.1093/bioinformatics/btaa518.

Specialties: Genetics

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Sporadic Oncocytic Tumors with Features Intermediate between Oncocytoma and Chromophobe Renal Cell Carcinoma: Comprehensive Clinico-Pathological and Genomic Profiling

Authors: Yajuan J Liu, Cigdem Ussakli, Tatjana Antic, Yuhua Liu, Yu Wu, Lawrence True, Maria S Tretiakova
Hum Pathol. 2020 Jul 13;S0046-8177(20)30126-X. doi: 10.1016/j.humpath.2020.07.003. Online ahead of print.

Specialties: Genetics, Oncology, Pathology

Disclaimer: One or more of the authors of this publication were employed at the time by , a subsidiary of Quest Diagnostics.

Next-Generation Sequencing in High-Sensitive Detection of Mutations in Tumors: Challenges, Advances and Applications

Authors: Singh RR
J Mol Diagn. 2020 May 29:S1525-1578(20)30330-5. doi: 10.1016/j.jmoldx.2020.04.213.

Specialties: Genetics, Oncology

Impacts of Genesurance Considerations on Genetic Counselors' Practice and Attitudes

Authors: Thoreson E, Murphy L, Lemons J, Farach L, Wilson K, Woodson A, Wagner C.
J Genet Couns. 2020 May 20. doi: 10.1002/jgc4.1291. Online ahead of print.

Specialties: Genetics

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors: Bean LJH, Funke B, Carlston CM, Gannon JL, Kantarci S, Krock BL, Zhang S, Bayrak-Toydemir P
Genet Med. 2019 Nov 16. doi: 10.1038/s41436-019-0666-z. [Epub ahead of print]

Specialties: Genetics

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Authors: Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.
Genet Med. 2019 Nov 6. doi: 10.1038/s41436-019-0686-8. [Epub ahead of print]

Specialties: Genetics

Evolving Roles of Genetic Counselors in the Clinical Laboratory.

Authors: Cho MT and Guy C.
Cold Spring Harb Perspect Med 2019 Sep 30. doi: 10.1101/cshperspect.a036574. [Epub ahead of print]

Specialties: Genetics

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) red cells.

Authors: Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL.
Am J Physiol Cell Physiol. 2019 May 15. doi: 10.1152/ajpcell.00074.2019. [Epub ahead of print]

Specialties: General Health and Wellness, Genetics

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